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    BDH2 3-hydroxybutyrate dehydrogenase 2 [ Homo sapiens (human) ]

    Gene ID: 56898, updated on 9-Dec-2024

    Summary

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    Official Symbol
    BDH2provided by HGNC
    Official Full Name
    3-hydroxybutyrate dehydrogenase 2provided by HGNC
    Primary source
    HGNC:HGNC:32389
    See related
    Ensembl:ENSG00000164039 AllianceGenome:HGNC:32389
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DHRS6; EFA6R; SDR15C1; UCPA-OR; UNQ6308; PRO20933
    Summary
    Enables 3-hydroxybutyrate dehydrogenase activity and NAD binding activity. Involved in epithelial cell differentiation and fatty acid beta-oxidation. Located in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 50.7), duodenum (RPKM 25.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BDH2 in Genome Data Viewer
    Location:
    4q24
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (103077592..103099834, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (106389483..106411725, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (103998749..104020991, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 9 member B1 Neighboring gene ACTR3B pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:103940703-103941203 Neighboring gene solute carrier family 9 member B2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21763 Neighboring gene centromere protein E Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:104119362-104119916 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:104176632-104177831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:104228025-104228542 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:104295695-104296229 Neighboring gene NANOG hESC enhancer GRCh37_chr4:104345927-104346428 Neighboring gene long intergenic non-protein coding RNA 2428

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human BDH2, an anti-apoptosis factor, is a novel poor prognostic factor for de novo cytogenetically normal acute myeloid leukemia. Yang WC, et al. J Biomed Sci, 2013 Aug 14. PMID 23941109, Free PMC Article
    2. Inflammation and ER stress downregulate BDH2 expression and dysregulate intracellular iron in macrophages. Zughaier SM, et al. J Immunol Res, 2014. PMID 25762501, Free PMC Article
    3. The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome. Yang WC, et al. Int J Mol Sci, 2020 Apr 25. PMID 32344823, Free PMC Article
    4. Inactivation of 3-hydroxybutyrate dehydrogenase type 2 promotes proliferation and metastasis of nasopharyngeal carcinoma by iron retention. Li B, et al. Br J Cancer, 2020 Jan. PMID 31819181, Free PMC Article
    5. Siderophore-mediated iron trafficking in humans is regulated by iron. Liu Z, et al. J Mol Med (Berl), 2012 Oct. PMID 22527885, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BDH2 triggers ROS-induced cell death and autophagy by promoting Nrf2 ubiquitination in gastric cancer.
      Title: BDH2 triggers ROS-induced cell death and autophagy by promoting Nrf2 ubiquitination in gastric cancer.
    2. The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome.
      Title: The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome.
    3. BDH2 expression is downregulated in nasopharyngeal carcinoma. Overexpression of BDH2 in nasopharyngeal carcinoma cells decreased the levels of intracellular iron, thereby inhibiting cell proliferation. In addition, overexpression of BDH2 reduced invasion and migration of nasopharyngeal carcinoma cells by reversing epithelial-mesenchymal transition.
      Title: Inactivation of 3-hydroxybutyrate dehydrogenase type 2 promotes proliferation and metastasis of nasopharyngeal carcinoma by iron retention.
    4. LncRNA TP73 antisense RNA 1T (TP73-AS1) positively regulates 3-hydroxybutyrate dehydrogenase type 2 (BDH2) by regulating miR-141.
      Title: LncRNA TP73-AS1 sponges miR-141-3p to promote the migration and invasion of pancreatic cancer cells through the up-regulation of BDH2.
    5. Data demonstrated that the dysregulation of iron homeostasis in CD4(+) T cells induced by BDH2 deficiency contributes to DNA demethylation and self-reactive T cells in SLE.
      Title: Downregulation of BDH2 modulates iron homeostasis and promotes DNA demethylation in CD4(+) T cells of systemic lupus erythematosus.
    6. High expression level of BDH2 is associated with esophageal squamous cell carcinoma.
      Title: Knockdown of long non-coding RNA TP73-AS1 inhibits cell proliferation and induces apoptosis in esophageal squamous cell carcinoma.
    7. intracellular expression in macrophages is downregulated by stress and inflammation
      Title: Inflammation and ER stress downregulate BDH2 expression and dysregulate intracellular iron in macrophages.
    8. BDH2 expression is an independent poor prognostic factor for CN-AML, with an anti-apoptotic role. Patients with high BDH2 expression have relatively shorter overall survival and a low complete response rate.
      Title: Human BDH2, an anti-apoptosis factor, is a novel poor prognostic factor for de novo cytogenetically normal acute myeloid leukemia.
    9. Iron-mediated post-transcriptional regulation of hBDH2 controls mitochondrial iron homeostasis in human cells.
      Title: Siderophore-mediated iron trafficking in humans is regulated by iron.
    10. Data show that the ketone body metabolizing enzymes BDH1, BDH2, OXCT1 and ACAT1 were expressed at the mRNA and protein level in all glioma cell lines.
      Title: Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13261

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-hydroxybutyrate dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3-hydroxybutyrate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 4-oxoproline reductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables NAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in epithelial cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heme metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_positive_effect intracellular sequestering of iron ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in siderophore biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in siderophore biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    NOT located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dehydrogenase/reductase SDR family member 6
    Names
    (R)-beta-hydroxybutyrate dehydrogenase
    3-hydroxybutyrate dehydrogenase, type 2
    4-oxo-L-proline reductase
    R-beta-hydroxybutyrate dehydrogenase
    oxidoreductase UCPA
    short chain dehydrogenase/reductase family 15C member 1
    NP_064524.3
    XP_005263197.1
    XP_006714337.1
    XP_047271937.1
    XP_047271938.1
    XP_047271939.1
    XP_047271940.1
    XP_047271941.1
    XP_047271942.1
    XP_054206515.1
    XP_054206516.1
    XP_054206517.1
    XP_054206518.1
    XP_054206519.1
    XP_054206520.1
    XP_054206521.1
    XP_054206522.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020139.4 → NP_064524.3  dehydrogenase/reductase SDR family member 6

      See identical proteins and their annotated locations for NP_064524.3

      Status: VALIDATED

      Source sequence(s)
      AC097485, AW136198, BC001953, BC095414, BI544872
      Consensus CDS
      CCDS3663.1
      UniProtKB/Swiss-Prot
      A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8
      Related
      ENSP00000296424.4, ENST00000296424.9
      Conserved Domains (1) summary
      cd05368
      Location:5 → 245
      DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      103077592..103099834 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263140.4 → XP_005263197.1  dehydrogenase/reductase SDR family member 6 isoform X3

      Conserved Domains (2) summary
      cd05368
      Location:5 → 207
      DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs
      PRK06138
      Location:2 → 206
      PRK06138; short chain dehydrogenase; Provisional

    2. XM_006714274.4 → XP_006714337.1  dehydrogenase/reductase SDR family member 6 isoform X1

      See identical proteins and their annotated locations for XP_006714337.1

      Conserved Domains (1) summary
      cd05368
      Location:5 → 259
      DHRS6_like_SDR_c; human DHRS6-like, classical (c) SDRs

    3. XM_047415985.1 → XP_047271941.1  dehydrogenase/reductase SDR family member 6 isoform X3

    4. XM_047415983.1 → XP_047271939.1  dehydrogenase/reductase SDR family member 6 isoform X2

      UniProtKB/Swiss-Prot
      A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8

    5. XM_047415981.1 → XP_047271937.1  dehydrogenase/reductase SDR family member 6 isoform X1

    6. XM_047415984.1 → XP_047271940.1  dehydrogenase/reductase SDR family member 6 isoform X2

      UniProtKB/Swiss-Prot
      A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8

    7. XM_047415982.1 → XP_047271938.1  dehydrogenase/reductase SDR family member 6 isoform X1

    8. XM_047415986.1 → XP_047271942.1  dehydrogenase/reductase SDR family member 6 isoform X4

      UniProtKB/TrEMBL
      A8K5M0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      106389483..106411725 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350545.1 → XP_054206520.1  dehydrogenase/reductase SDR family member 6 isoform X3

    2. XM_054350540.1 → XP_054206515.1  dehydrogenase/reductase SDR family member 6 isoform X1

    3. XM_054350546.1 → XP_054206521.1  dehydrogenase/reductase SDR family member 6 isoform X3

    4. XM_054350543.1 → XP_054206518.1  dehydrogenase/reductase SDR family member 6 isoform X2

      UniProtKB/Swiss-Prot
      A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8

    5. XM_054350541.1 → XP_054206516.1  dehydrogenase/reductase SDR family member 6 isoform X1

    6. XM_054350544.1 → XP_054206519.1  dehydrogenase/reductase SDR family member 6 isoform X2

      UniProtKB/Swiss-Prot
      A8K295, B4DUF6, Q503A0, Q6IA46, Q6UWD3, Q9BUT1, Q9H8S8, Q9NRX8

    7. XM_054350542.1 → XP_054206517.1  dehydrogenase/reductase SDR family member 6 isoform X1

    8. XM_054350547.1 → XP_054206522.1  dehydrogenase/reductase SDR family member 6 isoform X4

      UniProtKB/TrEMBL
      A8K5M0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUT1.2 GenPept UniProtKB/Swiss-Prot:Q9BUT1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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